3hy8: Difference between revisions
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{{STRUCTURE_3hy8| PDB=3hy8 | SCENE= }} | {{STRUCTURE_3hy8| PDB=3hy8 | SCENE= }} | ||
===Crystal Structure of Human Pyridoxine 5'-Phosphate Oxidase R229W Mutant=== | |||
{{ABSTRACT_PUBMED_19759001}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/PNPO_HUMAN PNPO_HUMAN]] Defects in PNPO are the cause of pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) [MIM:[http://omim.org/entry/610090 610090]]; also known as PNPO-related neonatal epileptic encephalopathy. The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PNPO_HUMAN PNPO_HUMAN]] Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP).<ref>PMID:12824491</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:019759001</ref><references group="xtra"/> | <ref group="xtra">PMID:019759001</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Pyridoxal 5'-phosphate synthase]] | [[Category: Pyridoxal 5'-phosphate synthase]] | ||
